AMS
MCID: ABL002
MIFTS: 54

Ablepharon-Macrostomia Syndrome (AMS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ablepharon-Macrostomia Syndrome

MalaCards integrated aliases for Ablepharon-Macrostomia Syndrome:

Name: Ablepharon-Macrostomia Syndrome 58 76 38 41 74
Ablepharon Macrostomia Syndrome 12 77 54 60 30 6 45 15
Ams 58 54 76
Eye Abnormalities 45 74
Congenital Ablepharon, Absent Eyelashes/eyebrows, Macrostomia, Auricular, Nasal, Genital and Other Systemic Anomalies 54
Macrostomia 45

Characteristics:

Orphanet epidemiological data:

60
ablepharon macrostomia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
overlapping features with barber-say syndrome


HPO:

33
ablepharon-macrostomia syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Ablepharon-Macrostomia Syndrome

NIH Rare Diseases : 54 Ablepharon macrostomia syndrome is genetic disorder characterized by absent eyelids (ablepharon) and very large mouth (macrostomia). Other common signs and symptoms include abnormal external ears, fusion (syndactyly) of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations, and developmental delay. Other reported findings include underdeveloped cheeks (malar hypoplasia), absent or very small (hypoplastic) nipples, umbilical abnormalities and growth retardation. It belongs to a group of diseases called ectodermal dysplasias (genetic disorders that involve defects in the skin, hair, nails, sweat glands, and/or teeth). Ablepharon macrostomia syndrome is caused by mutations in the TWIST2 gene. Inheritance is autosomal dominant, but most cases are sporadic (when there are no other cases in the family). Treatment is aimed toward correcting the problems that are present. Mutations in TWIST2 gene also cause the Barber Say syndrome and Setleis syndrome, other ectodermal dysplasia syndromes which have very similar features.  

MalaCards based summary : Ablepharon-Macrostomia Syndrome, also known as ablepharon macrostomia syndrome, is related to walker-warburg syndrome and say syndrome, and has symptoms including dry skin and eye manifestations. An important gene associated with Ablepharon-Macrostomia Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2), and among its related pathways/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. Affiliated tissues include skin, eye and bone, and related phenotypes are delayed speech and language development and microtia

Disease Ontology : 12 A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37.

OMIM : 58 Ablepharon-macrostomia syndrome is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015). (200110)

UniProtKB/Swiss-Prot : 76 Ablepharon-macrostomia syndrome: A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.

Wikipedia : 77 Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal dominant genetic disorder... more...

Related Diseases for Ablepharon-Macrostomia Syndrome

Diseases related to Ablepharon-Macrostomia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 464)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 31.4 FKRP FKTN LARGE1 POMGNT1 POMT1
2 say syndrome 31.3 LOC100287387 TWIST2
3 barber-say syndrome 30.8 CYP26C1 LOC100287387 TWIST2
4 ectropion 30.8 PAX6 TWIST2
5 muscular dystrophy, congenital, lmna-related 29.4 FKRP FKTN POMGNT1 POMT1
6 muscular dystrophy 29.0 FKRP FKTN LARGE1 POMGNT1 POMT1
7 muscle eye brain disease 29.0 FKRP FKTN LARGE1 POMGNT1 POMT1
8 macrostomia, isolated 12.7
9 mandibulofacial dysostosis with macroblepharon and macrostomia 12.4
10 dwarfism, mental retardation, and eye abnormality 12.1
11 apparent mineralocorticoid excess 12.1
12 macrostomia-preauricular tags-external ophthalmoplegia syndrome 12.1
13 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.9
14 phace syndrome 11.7
15 acute mountain sickness 11.5
16 walker dyson syndrome 11.4
17 cardiofaciocutaneous syndrome 3 11.2
18 mental retardation and distinctive facial features with or without cardiac defects 11.2
19 alport syndrome 11.2
20 treacher collins syndrome 1 11.0
21 lambert syndrome 11.0
22 alazami syndrome 11.0
23 simpson-golabi-behmel syndrome 11.0
24 microphthalmia 10.9
25 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.7
26 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.7
27 focal facial dermal dysplasia 3, setleis type 10.7
28 kaufman oculocerebrofacial syndrome 10.7
29 knobloch syndrome 1 10.7
30 phace association 10.7
31 pierson syndrome 10.7
32 congenital disorder of glycosylation, type iik 10.7
33 stickler syndrome 10.7
34 autosomal dominant alport syndrome 10.7
35 autosomal recessive alport syndrome 10.7
36 alport syndrome 3, autosomal dominant 10.6
37 aniridia 1 10.6
38 stickler syndrome, type i 10.6
39 branchiooculofacial syndrome 10.6
40 cleidocranial dysplasia 10.6
41 coloboma of macula 10.6
42 coloboma of optic nerve 10.6
43 kenny-caffey syndrome, type 2 10.6
44 flynn-aird syndrome 10.6
45 marcus gunn phenomenon 10.6
46 marshall syndrome 10.6
47 momo syndrome 10.6
48 schimmelpenning-feuerstein-mims syndrome 10.6
49 oculodentodigital dysplasia 10.6
50 rubinstein-taybi syndrome 1 10.6

Graphical network of the top 20 diseases related to Ablepharon-Macrostomia Syndrome:



Diseases related to Ablepharon-Macrostomia Syndrome

Symptoms & Phenotypes for Ablepharon-Macrostomia Syndrome

Human phenotypes related to Ablepharon-Macrostomia Syndrome:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
4 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
5 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
6 redundant skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001582
7 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
8 absent eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000561
9 absent eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002223
10 ablepharon 60 33 hallmark (90%) Very frequent (99-80%) HP:0011224
11 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
12 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
13 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
14 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
15 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
16 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
17 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
18 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
19 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
20 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
21 aplasia/hypoplasia of the nipples 60 33 frequent (33%) Frequent (79-30%) HP:0006709
22 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
23 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
24 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
25 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
26 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
27 abnormality of female external genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000055
28 excessive wrinkled skin 60 33 frequent (33%) Frequent (79-30%) HP:0007392
29 breast hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0003187
30 cryptophthalmos 60 33 frequent (33%) Frequent (79-30%) HP:0001126
31 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
32 corneal erosion 60 33 occasional (7.5%) Occasional (29-5%) HP:0200020
33 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
34 abnormal hair pattern 60 33 occasional (7.5%) Occasional (29-5%) HP:0010720
35 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
36 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
37 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
38 atresia of the external auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0000413
39 omphalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0001539
40 talipes equinovarus 33 occasional (7.5%) HP:0001762
41 short metacarpal 33 occasional (7.5%) HP:0010049
42 short upper lip 33 occasional (7.5%) HP:0000188
43 hypertelorism 33 HP:0000316
44 abnormal nasal morphology 33 HP:0005105
45 abnormality of the mouth 33 HP:0000153
46 cheekbone underdevelopment 60 Very frequent (99-80%)
47 microtia, third degree 33 HP:0011267
48 ventral hernia 33 HP:0002933

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
cryptophthalmos
ablepharon (absent eyelids)
microblepharon
eyebrows absent
more
Genitourinary External Genitalia Male:
ambiguous genitalia

Head And Neck Mouth:
macrostomia
short upper lip (in some patients)
bilateral deficiency of lateral lower lip (in some patients)
unfused labial commissures (in some patients)
absent gingiva (in some patients)

Head And Neck Ears:
external ears rudimentary

Chest Breasts:
nipples absent or rudimentary

Skeletal Hands:
syndactyly of fingers, variable (in some patients)
shortening of metacarpals, variable (in some patients)
fifth-finger camptodactyly (in some patients)

Skin Nails Hair Hair:
lanugo absent

Skin Nails Hair Skin:
dry skin
coarse skin
redundant folds

Genitourinary External Genitalia Female:
ambiguous genitalia

Head And Neck Face:
zygomatic arches absent

Head And Neck Nose:
shape abnormal
deficiency of lateral alae nasi (in some patient)

Abdomen External Features:
ventral hernia

Skeletal Feet:
syndactyly of toes, variable (in some patients)
clubfeet (in some patients)

Neurologic Central Nervous System:
language delayed

Clinical features from OMIM:

200110

UMLS symptoms related to Ablepharon-Macrostomia Syndrome:


dry skin, eye manifestations

MGI Mouse Phenotypes related to Ablepharon-Macrostomia Syndrome:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.23 CYP26C1 FKRP FKTN FRAS1 FREM2 LARGE1
2 craniofacial MP:0005382 10.21 CYP26C1 FKRP FRAS1 FREM2 LARGE1 PAX6
3 behavior/neurological MP:0005386 10.2 FKRP FKTN LARGE1 PAX6 POMGNT1 POMT1
4 cardiovascular system MP:0005385 10.19 FKRP FRAS1 FREM2 LARGE1 PAX6 POMGNT1
5 cellular MP:0005384 10.18 CYP26C1 FKRP FKTN FRAS1 PAX6 POMGNT1
6 mortality/aging MP:0010768 10.18 CYP26C1 FKRP FKTN FRAS1 FREM2 LARGE1
7 digestive/alimentary MP:0005381 10.04 FRAS1 LARGE1 PAX6 POMGNT1 SOX2 TWIST1
8 embryo MP:0005380 10.02 CYP26C1 FKTN FREM2 PAX6 POMT1 SOX2
9 muscle MP:0005369 10.02 FKRP FKTN FREM2 LARGE1 PAX6 POMGNT1
10 nervous system MP:0003631 9.96 CYP26C1 FKRP FKTN FREM2 LARGE1 PAX6
11 hearing/vestibular/ear MP:0005377 9.83 FREM2 LARGE1 PAX6 SOX2 TWIST2
12 limbs/digits/tail MP:0005371 9.8 CYP26C1 FRAS1 FREM2 TWIST1 TWIST2
13 reproductive system MP:0005389 9.7 FREM2 LARGE1 OCRL PAX6 POMGNT1 SOX2
14 skeleton MP:0005390 9.56 FKRP FRAS1 FREM2 LARGE1 PAX6 SOX2
15 vision/eye MP:0005391 9.32 FKRP FRAS1 FREM2 LARGE1 OCRL PAX6

Drugs & Therapeutics for Ablepharon-Macrostomia Syndrome

Search Clinical Trials , NIH Clinical Center for Ablepharon-Macrostomia Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: macrostomia

Genetic Tests for Ablepharon-Macrostomia Syndrome

Genetic tests related to Ablepharon-Macrostomia Syndrome:

# Genetic test Affiliating Genes
1 Ablepharon Macrostomia Syndrome 30 TWIST2

Anatomical Context for Ablepharon-Macrostomia Syndrome

MalaCards organs/tissues related to Ablepharon-Macrostomia Syndrome:

42
Skin, Eye, Bone, Breast

Publications for Ablepharon-Macrostomia Syndrome

Articles related to Ablepharon-Macrostomia Syndrome:

(show all 18)
# Title Authors Year
1
Use of the Masquerade Flap in Ablepharon-Macrostomia Syndrome: A Case Report. ( 29538102 )
2018
2
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View. ( 28690482 )
2017
3
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview. ( 27196381 )
2016
4
A Case Report of Ablepharon-Macrostomia Syndrome with Amniotic Membrane Grafting. ( 26600791 )
2015
5
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. ( 24115501 )
2013
6
Clinical variant of ablepharon macrostomia syndrome. ( 23198177 )
2011
7
Ablepharon-Macrostomia syndrome--extension of the phenotype. ( 22002929 )
2011
8
Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome. ( 21595001 )
2011
9
Ablepharon-macrostomia syndrome in a 46-year-old woman. ( 15103726 )
2004
10
Ablepharon-macrostomia syndrome. ( 11807864 )
2002
11
Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities. ( 11746001 )
2001
12
Familial occurrence of ablepharon macrostomia syndrome: eyelid structure and surgical considerations. ( 10721975 )
2000
13
Ablepharon-macrostomia syndrome: first report of familial occurrence. ( 11038439 )
2000
14
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. ( 8834257 )
1996
15
Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. ( 8746822 )
1995
16
Ablepharon macrostomia syndrome. ( 2036354 )
1991
17
A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. ( 3293678 )
1988
18
Ablepharon macrostomia syndrome. ( 4003491 )
1985

Variations for Ablepharon-Macrostomia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ablepharon-Macrostomia Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 TWIST2 p.Glu75Lys VAR_074675 rs796065049

ClinVar genetic disease variations for Ablepharon-Macrostomia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST2 NM_057179.2(TWIST2): c.223G> A (p.Glu75Lys) single nucleotide variant Pathogenic rs1553565140 GRCh38 Chromosome 2, 238848438: 238848438
2 TWIST2 NM_057179.2(TWIST2): c.223G> A (p.Glu75Lys) single nucleotide variant Pathogenic rs1553565140 GRCh37 Chromosome 2, 239757079: 239757079

Expression for Ablepharon-Macrostomia Syndrome

Search GEO for disease gene expression data for Ablepharon-Macrostomia Syndrome.

Pathways for Ablepharon-Macrostomia Syndrome

Pathways related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 LARGE1 POMGNT1 POMT1
2 10.38 FKRP FKTN LARGE1 POMGNT1 POMT1

GO Terms for Ablepharon-Macrostomia Syndrome

Cellular components related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of Golgi membrane GO:0030173 8.8 FKTN LARGE1 POMGNT1

Biological processes related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 FREM2 PAX6 POMT1 SOX2 TWIST1 TWIST2
2 protein glycosylation GO:0006486 9.55 FKRP FKTN LARGE1 POMGNT1 POMT1
3 pituitary gland development GO:0021983 9.43 PAX6 SOX2
4 eye development GO:0001654 9.43 FREM2 PAX6 SOX2
5 morphogenesis of an epithelium GO:0002009 9.4 FRAS1 FREM2
6 glycoprotein biosynthetic process GO:0009101 9.32 FKRP LARGE1
7 protein O-linked glycosylation GO:0006493 9.26 FKTN LARGE1 POMGNT1 POMT1
8 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN LARGE1 POMT1

Molecular functions related to Ablepharon-Macrostomia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.13 LARGE1 POMGNT1 POMT1
2 acetylglucosaminyltransferase activity GO:0008375 8.62 LARGE1 POMGNT1

Sources for Ablepharon-Macrostomia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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